ClinVar for Gene (Select 2977) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283163	NM_000855.3(GUCY1A2):c.781A>C (p.Ile261Leu)	GUCY1A2 (I261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283162	NM_000855.3(GUCY1A2):c.1963C>T (p.Arg655Cys)	GUCY1A2 (R686C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283161	NM_000855.3(GUCY1A2):c.130G>C (p.Gly44Arg)	GUCY1A2, LOC130006681 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283160	NM_000855.3(GUCY1A2):c.1963C>A (p.Arg655Ser)	GUCY1A2 (R686S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283159	NM_000855.3(GUCY1A2):c.356A>G (p.Gln119Arg)	GUCY1A2 (Q119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283158	NM_000855.3(GUCY1A2):c.904A>G (p.Met302Val)	GUCY1A2 (M302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283157	NM_000855.3(GUCY1A2):c.2145A>G (p.Ile715Met)	GUCY1A2 (I715M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235735	NM_000855.3(GUCY1A2):c.208_228del (p.Ala70_Ala76del)	GUCY1A2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3103285	NM_000855.3(GUCY1A2):c.604G>A (p.Gly202Ser)	GUCY1A2 (G202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103283	NM_000855.3(GUCY1A2):c.311C>T (p.Thr104Met)	GUCY1A2 (T104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103282	NM_000855.3(GUCY1A2):c.2003G>T (p.Arg668Leu)	GUCY1A2 (R668L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103281	NM_000855.3(GUCY1A2):c.1895C>T (p.Pro632Leu)	GUCY1A2 (P663L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103279	NM_000855.3(GUCY1A2):c.1433G>C (p.Arg478Thr)	GUCY1A2 (R478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2612151	NM_000855.3(GUCY1A2):c.251G>A (p.Arg84Gln)	GUCY1A2 (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600867	NM_000855.3(GUCY1A2):c.655A>G (p.Thr219Ala)	GUCY1A2 (T219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595205	NM_000855.3(GUCY1A2):c.1792G>C (p.Glu598Gln)	GUCY1A2 (E598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589869	NM_000855.3(GUCY1A2):c.775A>G (p.Lys259Glu)	GUCY1A2 (K259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533906	NM_000855.3(GUCY1A2):c.432C>G (p.Asn144Lys)	GUCY1A2 (N144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531307	NM_000855.3(GUCY1A2):c.449A>C (p.Asp150Ala)	GUCY1A2 (D150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529873	NM_000855.3(GUCY1A2):c.367T>C (p.Tyr123His)	GUCY1A2 (Y123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510769	NM_000855.3(GUCY1A2):c.357A>T (p.Gln119His)	GUCY1A2 (Q119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509551	NM_000855.3(GUCY1A2):c.149C>T (p.Pro50Leu)	GUCY1A2, LOC130006681 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507476	NM_000855.3(GUCY1A2):c.319C>G (p.Gln107Glu)	GUCY1A2 (Q107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495846	NM_000855.3(GUCY1A2):c.58G>A (p.Glu20Lys)	GUCY1A2, LOC130006681 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474361	NM_000855.3(GUCY1A2):c.1829C>A (p.Pro610Gln)	GUCY1A2 (P610Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337087	NM_000855.3(GUCY1A2):c.199G>T (p.Ala67Ser)	GUCY1A2 (A67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307719	NM_000855.3(GUCY1A2):c.43G>A (p.Gly15Ser)	GUCY1A2 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290334	NM_000855.3(GUCY1A2):c.20C>T (p.Ser7Leu)	GUCY1A2 (S7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287172	NM_000855.3(GUCY1A2):c.742T>C (p.Phe248Leu)	GUCY1A2 (F248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283992	NM_000855.3(GUCY1A2):c.667C>T (p.Pro223Ser)	GUCY1A2 (P223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276883	NM_000855.3(GUCY1A2):c.160G>A (p.Ala54Thr)	GUCY1A2, LOC130006681 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274566	NM_000855.3(GUCY1A2):c.2030G>A (p.Arg677Gln)	GUCY1A2 (R677Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243722	NM_000855.3(GUCY1A2):c.1960C>G (p.Arg654Gly)	GUCY1A2 (R685G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223151	NM_000855.3(GUCY1A2):c.556G>A (p.Glu186Lys)	GUCY1A2 (E186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211394	NM_000855.3(GUCY1A2):c.787C>T (p.Arg263Trp)	GUCY1A2 (R263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815470	GRCh37/hg19 11q22.3(chr11:106589989-106988658)x3	GUCY1A2	Copy number gain	not provided	GUncertain significance
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815464	GRCh37/hg19 11q22.3(chr11:103983847-106914369)x3	AASDHPPT, CARD16 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815463	GRCh37/hg19 11q22.3(chr11:103980525-106914369)x1	AASDHPPT, CARD16 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 770221	NM_000855.3(GUCY1A2):c.834T>C (p.Ser278=)	GUCY1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 442127	GRCh37/hg19 11q22.3(chr11:106767102-107561488)x3	ALKBH8, CWF19L2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59